My Son's Rare Disease Has Made Us Stronger Humans
Rare Disease Day 2017
RS Anand has a teenage son with a rare disease Duchenne Muscular Dystrophy which restricts him to a wheelchair. He talks about the emotional and mental strength that they have needed to build on as family to accept and overcome the various challenges.
Please tell us a bit about your son's condition
My son Karanveer has Duchenne Muscular Dystrophy (DMD).
The Muscular Dystrophies are a group of genetic diseases characterised by progressive weakness and degeneration of the skeletal or voluntary muscles which control movement. The muscles of the heart and some other involuntary muscles are also affected in some forms of Muscular Dystrophy, and a few forms involve other organs as well. This is due to a lack of a protein called ‘Dystrophin”.
The Disease affects only boys but girls are carriers. Affected boys stop walking by the age of 10 – 12 and become wheelchair bound. Their average life expectancy is between 18 – 24 due to the onset of Cardiac or Respiratory failure. Since one out of 3500 boys are affected, India has one of the largest population of children suffering from Muscular Dystrophy.
When was your son diagnosed? Explain the challenges of diagnosis.
He was diagnosed in 2003. First, we were advised to get a muscle biopsy done and analyzsed. This itself was a challenge as there were hardly any surgeons who knew about this condition and how much quantity and where to take the muscle sample from. After trying in several places, we realised that whole genome sequencing was not available in India and we were only able to get partial sequencing for DMD gene done where the mutation could not be identified. Finally, in 2007, we were able to get the sequencing done from Utah, USA.
What were the early symptoms?
Karanveer used to find it very difficult to get up from a sleeping or sitting position and needed support to do so. Also his way / style of getting up was very unique now known as Gower’s Maneuver. He would also fall frequently.
Is there a history of DMD in your family?
What is your child’s present condition?
He is 16, and even though he is wheelchair-bound, he is able to do most of the daily tasks on his own. However, he needs help in getting up, sitting down and changing positions from chair to bed. He even manages to take quite a few steps, with some support, around 10 – 15 steps at a time, about 12 times in the morning and 12 times in the evening.
Please describe the experience of managing DMD
As with all muscular related issues, he needs support to move around, although one must remember that the biggest disability is in the mind and once we are able to overcome that, the rest is easily manageable. Having said that, one of us is always around to assist him in case he needs help, at the same time giving him his space which is very important to make him feel independent. If taken in the right spirit, it grows on you and it never feels like one is sacrificing anything. It is just a matter of adapting to a different lifestyle and accepting the change is the key.
Any related complications?
As of now, there are no such medical complications apart from the little weight gain and movement.
What medications is your child on?
Corticosteroids and Calcium supplements
Were there any side-effects of the medicines?
Weight gain because of long term use of steroids. Mood swings. But I want to add that we feel the weight gain because of steroids has worked to Karan’s benefit. DMD is a muscle wasting disorder, the fat is actually acting as a support for the bones / structure, helping him to do more things physically than other Duchenne boys.
What were some of the challenges you faced and what is your advice to parents who face similar challenges?
Firstly, one has to accept the fact that there is a condition. One must remember that the child has a condition and the parent’s mental and physical stability is the only calming factor for the child. If we are strong, the child will be strong. If we are happy, the child will be happy. We must try to maintain a normal environment and not hide anything from the child. Remember, positive reinforcement is very important.
Have you learnt anything in managing your child’s condition that you wish you knew before?
Living with a special child is an ongoing learning experience because there are no fixed guidelines to refer to. Each moment and day is different and one must be mentally alert and dynamic in your outlook towards the present situation.
What kind of specialists do you consult and how often?
- Pediatric neurologist
- Physio therapist
What resources are available to you in your city to help you manage the condition?
We are able to manage the condition quite well with the resources available in Bangalore.
Have you had to make some changes to your lifestyle because of your child’s condition?
Yes. Plenty. Basically most of our activities like going out for a meal or movie or holidays revolve around our son, taking into consideration the facilities available. He has become our focal point.
Have you tried complementary medicine or therapies, like homeopathy or yoga?
Yes, we did. "Homeopathy didn't really have anything to offer and Ayurveda was a disaster in our case. Non-physical yoga like breathing did help though.
Has it been difficult emotionally to cope? How has your family and friends supported you?
Initially, on learning about his condition, it was definitely difficult to cope. But for his sake, we had to become physically and mentally strong to help us as a family to face the unknown challenges ahead. Yes, friends and family have also been a big support for us.
Does your family need to see a counsellor for support?
Yes. We are each other’s counsellors because only we really understand each other’s physical and mental state and are in a position to offer advice or help.
What was the hardest part of the journey?
Acceptance and the ability to adapt to changes and needs at every stage.
How has this changed your life’s perspectives and ambitions.
It has made us stronger human beings and definitely more ambitious to achieve higher goals that help us to overcome the various challenges life has to throw at us on a daily basis.
RS Anand is also founder of Dystrophy Annihilation Research Trust [DART is a lab in India focusing on Muscular Dystrophy(MD)]